Craniofacial Growth in Patients With FGFR3Pro250Arg Mutation After Fronto-Orbital Advancement in Infancy

Ridgway, Emily B.; Wu, June K.; Sullivan, Stephen R.; Vasudavan, Sivabalan; Padwa, Bonnie L.; Rogers, Gary F.; Mulliken, John B.

doi:10.1097/scs.0b013e3182077d93

Cited by 33 publications

(30 citation statements)

References 27 publications

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“…Ridgway and colleagues also reported a shorter cranial base than in controls, although they did not report on the status of the spheno-occipital synchondrosis, nor did they hypothesize as to why the cranial base was short. 24 The results of this study also provoke renewed interest in the spheno-occipital synchondrosis as a surgical target in patients with craniosynostosis syndromes. The anatomical region encompassing the spheno-occipital synchondrosis is unforgiving, and surgical mishaps would undoubtedly result in significant patient morbidity and perhaps even mortality.…”

Section: Discussionmentioning

confidence: 93%

Differential Closure of the Spheno-occipital Synchondrosis in Syndromic Craniosynostosis

McGrath

Gerety²,

Derderian

et al. 2012

Plastic and Reconstructive Surgery

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Section: Discussionmentioning

confidence: 93%

Differential Closure of the Spheno-occipital Synchondrosis in Syndromic Craniosynostosis

McGrath

Gerety²,

Derderian

et al. 2012

Plastic and Reconstructive Surgery

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“…Subsequent magnetic resonance imaging in this patient detected temporal lobe dysgenesis. In a recent study by Ridgway et al [15], 15% of patients (n = 3) demonstrated epilepsy. De Jong et al [14] reported on two Dutch families with Muenke syndrome, including two patients with epilepsy.…”

Section: Discussionmentioning

confidence: 99%

“…However, recent reports described several patients with Muenke syndrome and epilepsy [14,15]. Moreover, a 2003 report described early-onset temporal lobe-related epilepsy in a patient with Muenke syndrome associated with temporal lobe dysgenesis, likely contributory to the seizure focus [16].…”

Section: Introductionmentioning

confidence: 99%

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Agochukwu¹,

Solomon²,

Gropman³

et al. 2012

Pediatric Neurology

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Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, hearing loss, intellectual disability, and relatively subtle limb findings such as carpal bone fusion and tarsal bone fusion. Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Epilepsy rarely occurs in individuals with Muenke syndrome, and little detail is reported on types of epilepsy, patient characteristics, and long-term outcomes. We present seven patients with Muenke syndrome and seizures. A review of 789 published cases of Muenke syndrome, with a focus on epilepsy and intracranial anomalies in Muenke syndrome, revealed epilepsy in six patients, with intracranial anomalies in five. The occurrence of epilepsy in Muenke syndrome within our cohort of 58 patients, of whom seven manifested epilepsy, and the intracranial anomalies and epilepsy reported in the literature, suggest that patients with Muenke syndrome may be at risk for epilepsy and intracranial anomalies. Furthermore, the impact of Muenke syndrome on the central nervous system may be greater than previously thought.

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“…Anomalies of the corpus callosum have also been reported in patients with Muenke syndrome [1, 36]. Epilepsy has been reported in patients with Muenke syndrome, Saethre–Chotzen syndrome, and Apert syndrome [32, 35, 87, 88]. Patients with Apert syndrome, Pfeiffer syndrome types 2 and 3, or who have neurologic abnormalities, developmental abnormalities, and/or epilepsy should receive a brain imaging study to identify structural anomalies.…”

Section: Managementmentioning

confidence: 99%

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

2012

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Purpose More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. Methods A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Results Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Conclusions Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.

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Craniofacial Growth in Patients With FGFR3Pro250Arg Mutation After Fronto-Orbital Advancement in Infancy

Cited by 33 publications

References 27 publications

Differential Closure of the Spheno-occipital Synchondrosis in Syndromic Craniosynostosis

Differential Closure of the Spheno-occipital Synchondrosis in Syndromic Craniosynostosis

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

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